NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

scientific article published on 18 February 2014

NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1093/BRAIN/AWU015
P932PMC publication ID3959555
P698PubMed publication ID24549961
P5875ResearchGate publication ID260253661

P50authorKarin Jurkat-RottQ40401064
P2093author name stringLuciano Merlini
Markus Wolf
Frank Lehmann-Horn
Chunxiang Fan
James R Groome
Vern Winston
P2860cites workThe crystal structure of a voltage-gated sodium channelQ27670752
A calcium channel mutation causing hypokalemic periodic paralysisQ28242375
Hypokalemic periodic paralysis: In vitro investigation of muscle fiber membrane parametersQ28265960
Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weaknessQ31056809
Voltage-gated ion channels and hereditary diseaseQ33744648
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysisQ33763782
Periodic paralysisQ34015907
Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutationsQ34028248
Ion Channel Voltage Sensors: Structure, Function, and PathophysiologyQ34139997
Intermediate states of the Kv1.2 voltage sensor from atomistic molecular dynamics simulationsQ34794503
Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotoniaQ34999202
Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathiesQ35025840
Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced currentQ35208537
Molecular dynamics investigation of the ω-current in the Kv1.2 voltage sensor domainsQ35679025
Pathophysiological role of omega pore current in channelopathiesQ36022793
A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating poreQ36299707
The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patientsQ36334463
The role of the putative inactivation lid in sodium channel gating current immobilizationQ36412221
Gating pore currents and the resting state of Nav1.4 voltage sensor domainsQ36436974
Leaky channels make weak musclesQ36439881
S1-S3 counter charges in the voltage sensor module of a mammalian sodium channel regulate fast inactivationQ36804623
Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesisQ36908941
Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysisQ37018940
K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaksQ37102151
Voltage-sensor mutations in channelopathies of skeletal muscleQ37692699
Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II.Q40742646
Voltage sensors in domains III and IV, but not I and II, are immobilized by Na+ channel fast inactivationQ41608443
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysisQ45185824
Ion permeation through a voltage- sensitive gating pore in brain sodium channels having voltage sensor mutationsQ46615032
Gating pore current in an inherited ion channelopathyQ48799799
Maximal upstroke velocity as an index of available sodium conductance. Comparison of maximal upstroke velocity and voltage clamp measurements of sodium current in rabbit Purkinje fibersQ51843117
Genotype and phenotype analysis of patients with sporadic periodic paralysisQ84763434
P433issuePt 4
P407language of work or nameEnglishQ1860
P921main subjectperiodic paralysisQ1788314
P304page(s)998-1008
P577publication date2014-02-18
P1433published inBrainQ897386
P1476titleNaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery
P478volume137

Reverse relations

cites work (P2860)
Q55263198A Mixed Periodic Paralysis & Myotonia Mutant, P1158S, Imparts pH-Sensitivity in Skeletal Muscle Voltage-gated Sodium Channels.
Q57816587A New Cardiac Channelopathy: From Clinical Phenotypes to Molecular Mechanisms Associated With Na1.5 Gating Pores
Q58740889A leaky voltage sensor domain of cardiac sodium channels causes arrhythmias associated with dilated cardiomyopathy
Q36680153A novel NaV1.5 voltage sensor mutation associated with severe atrial and ventricular arrhythmias
Q36516769A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.
Q59329122A204E mutation in Na1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs
Q38207583Biophysics, pathophysiology, and pharmacology of ion channel gating pores
Q28082428Channelopathies of skeletal muscle excitability
Q41289031Domain III S4 in closed-state fast inactivation: insights from a periodic paralysis mutation
Q58327238Gating Pore Currents in Sodium Channels
Q35014373Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy
Q41277802Gating pore currents, a new pathological mechanism underlying cardiac arrhythmias associated with dilated cardiomyopathy.
Q55512224Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.
Q41273672Hypokalemic periodic paralysis: an omega pore mutation affects inactivation
Q87841107Improving the characterization of calcium channel gating pore currents with Stac3
Q36615476Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Q38266367Molecular biology and biophysical properties of ion channel gating pores.
Q43110938Mutations in the Voltage Sensors of Domains I and II of Nav1.5 that are Associated with Arrhythmias and Dilated Cardiomyopathy Generate Gating Pore Currents.
Q89508197NaV1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers
Q92259842Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation
Q52325902Spider toxin inhibits gating pore currents underlying periodic paralysis.
Q64039626Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G)
Q33729032Structure-based assessment of disease-related mutations in human voltage-gated sodium channels

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